I proposed the concept of measurement pediatrics in my previous lecture at Tokyo Women's Medical University in 2000. Since 2000, several advancements have been reported in the field on measurement pediatrics. 1. The standards for evaluating physical growth, for example height and weight, in children from 0 to 18 should be based on the report of the anthropometric survey on infants and young children by the Ministry of Health, Labour and Welfare in 2000 and the report of School Health Statistics by the Ministry of Education, Culture, Sports, Science and Technology in 2000. 2. The skeletal maturity (RUS) scores reported in 1993 are useful as standards for estimating bone age. 3. The fitness of physique of children from 3 to 18 should be estimated using the percentage of overweight criteria. 4. The Ministry of Education, Culture, Sports and Technology prescribed that school health staffs should be positive about using growth charts in their school health programs since 2016, and the Ministry of Health, Labour and Welfare explained that the nutritional state in children under 18 should be evaluated by using growth charts in 2015. 5. The Japanese Society for Pediatric Endocrinology announced that percentile growth charts should be used in practice in 2016. These advancements must contribute to the progress of measurement pediatrics in the future.
Childhood-onset type 1 diabetes (T1D) is a relatively rare disease in Japan. In our department, we have around 50 patients with T1D. The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT) was established in 1994. Here, I will introduce the current issues surrounding T1D in the form of answers to eight questions.
T1D is classified into T1A (autoimmune) and T1B (idiopathic). T1A is an autoimmune disease in which pancreatic β cells are destroyed by both genetic and environmental factors. Associations with HLA and other gene polymorphisms (SNP) have been reported. The incidence of childhood-onset T1D is reportedly increasing in Europe and the US, but not in Japan. Autoimmune thyroid disease has been shown to accompany T1D frequently. Insulin pump therapy (CSII) is useful and has recently become popular for the treatment of younger children. A carbohydrate counting (Carbocount) is recommended by international medical practice guide lines for T1D. A smooth transition of medical care is required from pediatric clinics to adult clinics. The goals of treatment for T1D are normal growth and development and self-reliance as an adult. For these goals to be reached, social and psychological support is needed.
Zika virus is a mosquito-borne flavivirus discovered in Africa in 1947. Symptoms are generally mild and include fever, rash, arthralgia, and conjunctivitis. Zika virus infection is suspected if these symptoms appear following a recent visit to areas where there is the epidemic. Outbreaks of the Zika virus continue mainly in Central and South America but there have been outbreaks in Asia as well and a few cases have been reported in Japan. Local transmission can happen in a manner similar to the outbreak of Dengue fever in Japan in 2014 as the Zika virus is transmitted by mosquito (Ae.albopictus) just like Dengue fever. While symptoms are milder than those of Dengue fever, the Zika virus can cause congenital Zika virus infection through maternal-fetal transmission and congenital abnormalities such as microcephaly can result. In the absence of a vaccine, measures to counter the mosquitos are of primary importance for now. Health care providers are required to have the knowledge to diagnose Zika virus infection where it is suspected based on these common symptoms.
This article reviews the Zika virus infection, its epidemiologic characteristics, clinical presentation, laboratory testing, treatment, and prevention to assist providers in the evaluation and management of suspected cases of Zika virus infection.
The Basophil Histamine Release Test (HRT) was developed 20 years ago. Following technological advances, Allerport HRT kit (Shionogi & Co. Ltd. Osaka, Japan), an automated HRT, was subsequently released. Despite an increased number of detectable antigens and simplicity of use, Allerport HRT kit has not been widely utilized in clinical settings. Possible reasons for this include the existence of low-responders, observed in approximately 20 % of cases, and the difficulty in interpreting test results representing a histamine-release curve. Effects of antihistamine medication and the amount of time required for assessment are believed to partially account for the low-response rate. A reduction in the low-response rate may further increase the sensitivity of HRT. Furthermore, some reports suggest that HRT can be utilized in assessing the timing of oral food challenge (OFC) tests through a chronological review of the histamine release curves, determining challenge doses for the OFC by looking at antigen release rates, and in assessment of severe cases where trace amounts of antigens trigger high histamine release.
Laryngomalacia is the most common cause of inspiratory stridor in infancy. Obstruction and stenosis of the larynx during inspiration cause symptoms such as inspiratory stridor and obstructive apnea. Diagnosis is made by bronchoscopy, and depending on the lesion it is classified into 3 types. Type 1 is caused by prolapse of mucosa overlying the arytenoid cartilages, Type 2 is caused by foreshortened aryepiglottic folds, and Type 3 is caused by posterior displacement of the epiglottis. In most cases, no special treatment is necessary and the disease will resolve naturally in about a year. In some severe cases, conservative management may become difficult due to symptoms such as feeding difficulty, poor weight gain, breathing difficulty and obstructive apnea, and aggressive treatment may become necessary. Examples of aggressive therapy are laryngoplasty for Types 1 and 2 laryngomalacia, and epiglottopexy for Type 3 laryngomalacia. In this paper, diagnosis and treatment of laryngomalacia will be discussed.
Post-transplant lymphoproliferative disorders (PTLD) remain a significant cause of morbidity and mortality after pediatric heart transplantation. More than 80 % of cases are of B-cell origin and are positive for Epstein-Barr virus (EBV). The pathogenesis of EBV-positive PTLD appears to be correlated with the uncontrolled proliferation of latently EBV-infected B cells arising from a lack of EBV-specific cytotoxic T-lymphocyte function. PTLD includes a spectrum of diseases ranging from reactive lymphoid proliferation to malignant lymphoma. The risk factors underlying the development of PTLD include the degree of immunosuppression, the EBV serostatus of the recipient, the time since transplantation, and the recipient's age and ethnicity. In the pediatric age group, most PTLD cases occur in EBV-negative recipients of EBV-positive donor organs. As part of routine evaluations of patients with a high risk of PTLD, EBV monitoring is useful for the early detection of this complication. A high index of suspicion is key to an early and accurate diagnosis of PTLD. The subsequent therapeutic goals are the eradication of PTLD and the preservation of graft function. The treatment outcomes for PTLD have steadily improved over the past decade, partly because of the availability of rituximab and everolimus.
The association between secular trends in height and changes in bone maturation was investigated. The first group of subjects consisted of a total of 1,057 girls and 1,055 boys who participated in a health research project conducted in Japan and China in 1986. The second group of subjects consisted of a total of 382 girls and 629 boys who participated in a research project examining bone mineral density in 1996. The skeletal maturity score was assessed using the Tanner-Whitehouse 2 RUS method. The Wilcoxon rank sum test was then applied to examine the significance of the differences between the 1986 and the 1996 groups. The 1996 children had not matured more quickly than the 1986 children, and the children in both groups reached the given scores at almost the same ages. In girls, there was a small difference between the groups at 7 years of age, but this difference decreased from the age of 8 years onwards. Some apparent differences arose at ages 14 and 15 years, but these differences ceased by the age of 16 years in girls. No differences were found for boys between the ages of 7 and 17 years, except for 12-year-olds. We did not detect a notable difference in bone maturation between the 1986 and 1996 groups of children, and no differences in height were observed during the same period. Our findings suggest that bone maturation reflects the secular trend in growth.
Acute encephalopathy in childhood is life-threatening and may cause death or neurological sequelae. Acute-phase clinical symptoms are pyrexia, seizures, and disturbance of consciousness. Many cases of influenza-associated encephalopathy in childhood have been reported in Japan, which is diagnosesd by its characteristic clinical course and finding from magnetic resonance imaging (MRI) of the head. Several cases have been characterized by hypercytokinemia, therefore, anti-proinflammatory cytokine therapy, such as methylprednisolone pulse therapy and intravenous immunoglobulin therapy, has been recommended for treating encephalopathy. Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a subtype of influenza-associated encephalopathy. However, AESD can be induced not only by influenza virus but also by other pathogens. The clinical course is characterized by a febrile seizure (usually >30 minutes) as the initial neurological symptom on day 1, followed by recurrent seizures on days 4-6. On days 3-9, lesions can be detected in the subcortical white matter by diffusion-weighted MRI. Although the mortality rate due to AESD is not high, associated neurological sequelae are frequently observed. An excitotoxic injury with delayed neuronal death is considered to be the primary pathogenic mechanism of AESD, although hypercytokinemia and metabolic failure can also occur. Control of the initial and recurrent seizures may affect outcomes.
Introduction: We examined patients with Kawasaki disease who were treated at our hospital. Here, we discuss our experience and current issues.
Methods: All patients who were treated for the acute phase of Kawasaki disease at our hospital between 1999 and 2016 were enrolled. Based on their medical records, epidemiological matters and treatment methods were retrospectively evaluated.
Results: A total of 776 patients with Kawasaki disease were treated at our hospital. The male-to-female ratio was 1.6. The majority of patients were 1 year old. Forty-eight cases exhibited coronary artery abnormalities (6.2 %). Eleven cases exhibited transient coronary artery dilatation during the acute phase, whereas eight had a moderate-sized to large-sized coronary aneurysm as a sequela. Overall, 15.7 % (101/643) of the patients did not respond to the initial IVIG therapy, and the incidence of coronary sequela among the non-responders was 21.8 % (22/101). The incidences of coronary artery abnormalities among patients with complete and incomplete Kawasaki disease were 5.1 % and 5.8 %, respectively.
Conclusion: We concluded that two major problems currently exist in the treatment of Kawasaki disease. The first problem is the management of cases that are refractory to initial IVIG therapy, and the second problem is the diagnosis and treatment of patients with incomplete Kawasaki disease. The development of treatment options for refractory cases is urgently needed.
Objective: In recent years, food allergy has become a social problem, and its relationship with anaphylaxis is very important. The epinephrine auto-injector EpiPen® is valuable in anaphylaxis treatment. We analyzed EpiPen® usage in patients with food allergy.
Method: We analyzed 187 pediatric patients prescribed EpiPen® in our department from 2005 to 2014.
Results: The number of patients prescribed EpiPen® increased 2012, after a case of death from food-allergy-induced anaphylaxis occurred in Japan. The major reason for EpiPen® prescription is a history of immediate reactions (IR, 84 %), followed by a history of food-dependent exercise-induced anaphylaxis (FDEIA, 11 %). EpiPen® was used in 21 cases (19 patients). FDEIA cases are 9 cases (40 %). EpiPen® was injected by patient self in 7 cases, by parent in 12 cases,by faculty member in 1 case and by ambulance attendant in 1 case. Discussion: In the FDEIA group, the patients themselves are responsible for their anaphylaxis treatment. We souhld educate not only the guardians but also the patients in cases where EpiPen® is prescribed for FDEIA.
Conclusion: It is important to figure out the peculiarity of the cases of EpiPen® was used and construct ambulance system.
Introduction: We report the course of congenital hydronephrosis in children during neonatal intensive care unit (NICU) hospitalization.
Materials and Methods: Of 1,042 patients admitted to our NICU from 2009 to 2013, 49 were diagnosed with congenital hydronephrosis; we retrospectively examined them using medical records.
Result: Thirty-eight patients were followed-up using urinalysis and ultrasonography every 3-6 months at our outpatient clinic in the pediatric department. Fifteen patients had Grade 1 hydronephrosis, four had Grade 2, and two had Grade 3, who did not recover until 1 year of age. More than half of the patients with Grade 1 or 2 hydronephrosis did not recover completely until 1 year of age. There was no difference between the patients who recovered by 1 year of age and those who did not about male-to-female ratio, mean gestational age, mean birth weight, presence or absence of fetal symptoms, left or right, renal pelvic anterior-posterior diameter. Patients with Grade 3 hydronephrosis had complications of urinary tract infections and spilt renal dysfunction. The only difference between patients with complications and those without was the cure time.
Conclusion: Although congenital hydronephrosis usually resolves naturally, it is important to observe all patients carefully, as it can worsen.
A boy with an episode of anaphylaxis to dairy products at 7 months of age was started on an elimination diet for eggs, milk, wheat, and peanuts. He inadvertently ingested a wheat-containing sakura rice cake at his nursery school at the age of 19 months and developed his second episode of anaphylaxis. At the age of 25 months, he ate French fried potatoes containing wheat at a fast food restaurant, and developed a third episode of anaphylaxis. At the age of 29 months, he ingested nuts that his mother had at home and developed a fourth episode. He developed a fifth episode at age 45 months when he ate boiled barley and rice served at kindergarten. After the third episode of anaphylaxis, although his weight was 11 kg, an epinephrine auto-injector was prescribed.
The second and fifth episodes of anaphylaxis developed when he was given improper food due to lack of awareness at the nursery school and kindergarten. The third and fourth episodes were caused by the mother's carelessness. Parental and care giver lack of knowledge was instrumental in each episode. We will review and report on similar examples, as well as measures to prevent recurrences.
Renal coloboma syndrome is a rare syndrome that presents as abnormalities of the optic nerve, retina and kidney; it is primarily caused by mutation of the PAX2 gene. Many of the kidney diseases associated with this syndrome are related to renal hypodysplasia, and many of the patients affected by it experience renal failure, although progress varies. The PAX2 gene abnormality that causes this syndrome was reported for the first time in 1995, but the exact frequency of occurrence is still unknown.
We investigated a case of renal coloboma syndrome that had been diagnosed in a 3-year-old child and was caused by a novel PAX2 gene mutation. We suspected the disease because the mother noticed a pupil abnormality caused by optic nerve coloboma, and the patient presented with a lack of weight gain, renal hypoplasia, and renal dysfunction. We therefore investigated the PAX2 gene and found a novel mutation in exon 3 (c.220G>T,E74*). Because there is no family history of the disease, we consider it to be an isolated case. Currently, there is no exacerbation of renal dysfunction, but careful follow-up observation is required in the future.
Ectopic ureter is a rare urinary tract abnormality, and is an important cause of urinary incontinence. As the affected kidney is almost hypoplastic or aplastic, it is occasionally difficult to identify an ectopic ureter.
We report the cases of two girls who had ectopic ureters with hypoplastic kidneys. In both cases, they had been diagnosed with hypoplastic kidneys during treatment for urinary tract infection.
On intravenous pyelography, the affected kidneys were not enhanced. Enhanced computed tomography and magnetic resonance imaging revealed hypoplastic kidneys, the ureter on affected side not inserting into the bladder but into the vagina, and a biocornuate uterus. Nephrectomy and ureterectomy were performed based on the diagnosis of ectopic ureter.
The possibility of ectopic ureters in patients with hypoplastic kidneys should be considered. Because urinary tract abnormality often complicates genital organ abnormality, research regarding this phenomenon is necessary.
Vitamin D-dependent rickets type1 is a rare autosomal recessive disorder caused by renal deficiency of 25-hydroxyvitamin D3 1α-hydroxylase. We had a 20-month old male patient with failure to thrive and regression of motor development. His clinical findings and biochemical data were consistent with a diagnosis of rickets. Furthermore, X-ray examination results showed typical signs of rickets. He was treated with 1α-hydroxyvitamin D supplementation. Both his height and motor development were gradually improved. Consequently in case of short stature, the rare possibility of vitamin D-dependent rickets type1 should be considered.
Down syndrome is characterized by the regression of social and communication skills that leads to poor quality of life at about 20 years of age. Specifically, the regression includes slowness, poor expression, reduced conversation, loss of interest, stubbornness, excitement, sleep disorder, loss of appetite, and weight loss. Eventually, there is a decrease in the daily living capacity, enough to necessitate full assistance. However, the recognition of these regression symptoms remains poor. It seems that the regression symptoms are sometimes misdiagnosed as "depression", "mood disorder", "initial symptoms of Alzheimer's disease", and so on. Clinical trials to test the efficacy of treatment with donepezil hydrochloride are underway since August 2013.
In this study, donepezil hydrochloride was administered to a 14-year-old girl diagnosed with having regression symptoms based on diagnostic guidance. Previous treatment with antidepressants did not cause any improvement, and her symptoms worsened until the diagnosis was made. However, donepezil hydrochloride therapy led to a remarkable improvement, enabling the child to become independent and capable of performing daily activities. We hope that diagnostic guidance for the regression of social and communication skills in Down syndrome will become widespread in the future and that more cases will be treated properly.
We present a case of Kawasaki disease (KD) complicated by clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). A 2-year-old boy was brought to the emergency outpatient unit because of recurrent convulsions. He had experienced two episodes of KD at the age of 1 year. Both episodes had been treated with high dose intravenous immunoglobulin therapy (IVIG; 2 g/kg/day) and the patient had recovered from both episodes without any sequelae. He was diagnosed as having KD based on the presence of 5 out of 6 criteria. After hospitalization, the patient exhibited a persistent disturbance of consciousness and was diagnosed as having MERS based on the presence of enhanced signals in the splenium of the corpus callosum on the 3rd day of illness. Initial treatment with IVIG plus pulsed methylprednisolone (30 mg/kg/day×3 days) for MERS was started. However, a high fever recurred on the 7th day. Additional treatment with IVIG plus intravenous prednisolone (2 mg/kg/day) was started on the 8th day. The patient's body temperature normalized on the 9th day and maintenance therapy with prednisolone was continued until the 28th day. Despite some risk factors for coronary artery lesion, the patient was discharged without any sequelae because of twice IVIG and aggressive steroid therapy including steroid pulse therapy.
We report a case of a male infant with refractory immune thrombocytopenia (ITP) treated with romiplostim.
The patient had received intravenous immunoglobulin (IVIg) therapy for ITP since the age of 3 months, but was hospitalized for recurrent thrombocytopenia.
On admission, there was no mucous membrane bleeding. Bone marrow examination, revealed increased megakaryocytes and characteristic findings of ITP. Because oral prednisolone and IVIg had no effect, we decided on observation. However, as he grew, his risk of bleeding for injury increased. We decided to use either a thrombopoietin (TPO) receptor agonist or rituximab. There are few reports of infants receiving TPO receptor agonists, but there are reports of infant deaths after used rituximab, and the remission rate with TPO receptor agonists is better than with rituximab. Therefore, we administered romiplostim, a TPO receptor agonist. We started romiplostim 2 months after ITP recurrence. His platelet count increased to 1×104/μL at 6 weeks after the start of therapy, and reached 20×104/μL without further treatment at 2 years after relapse. We assume his ITP is in remission.
Use of a TPO receptor agonist may be an effective non-operative treatment in refractory infantile ITP.
We report herein on the diagnosis of a case of suppurative iliopsoitis based on the early specific symptoms of a young girl's posture and gait.
A 12-year-old girl presented at our hospital with complaints of pain in her right coxa and fever for 5 days. She walked with a right limp and her right coxa was slightly crooked caused by pain. We diagnosed her illness as suppurative iliopsoitis because the inflammatory responses were high and plain CT images revealed a low absorption region around the right iliopsoas muscle coupled with a high density area around the right iliac muscle and psoas major muscle in a pelvic examination with short tau inversion recovery (STIR) MRI. Intravenous meropenem, 1 g/day divided, for 14 days soon achieved improvement. We could not identify what the causative bacterium was because the patient's blood culture was negative.
Suppurative iliopsoitis occurs commonly through hematogenic infection with Staphylococcus aureus, and severe cases require surgery. Early intervention using antibiotics affected a cure for this patient without any sequelae. It is important we should make a diagnosis suppurative iliopsoitis with the use of imaging tools and start medication immediately if we suspect this disease, based on the patient's symptoms.